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Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease

New genomic sequencing techniques have shown considerable promise in the field of neonatology, increasing the diagnostic rate and reducing time to diagnosis. However, several obstacles have hindered the incorporation of this technology into routine clinical practice. We prospectively evaluated the d...

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Bibliografische gegevens
Gepubliceerd in:J Clin Med
Hoofdauteurs: de Castro, María José, González-Vioque, Emiliano, Barbosa-Gouveia, Sofía, Salguero, Enrique, Rite, Segundo, López-Suárez, Olalla, Pérez-Muñuzuri, Alejandro, Couce, María-Luz
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7464859/
https://ncbi.nlm.nih.gov/pubmed/32718099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9082362
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